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Vascular complications of Fabry disease: enzyme replacement and other therapies

D A Hughes1, A B Mehta

  • 1Department of Academic Haematology, Royal Free and University College Medical School, London, UK. da.hughes@rfc.ucl.ac.uk

Acta Paediatrica (Oslo, Norway : 1992). Supplement
|May 18, 2005
PubMed

Insights

Fabry disease, a genetic disorder, causes cell storage leading to organ damage. Enzyme replacement therapy shows promise in improving vascular issues associated with this condition.

Area of Science:

  • Biochemistry
  • Genetics
  • Pathology

Background:

  • Fabry disease is an X-linked disorder caused by alpha-galactosidase A deficiency.
  • This deficiency leads to globotriaosylceramide accumulation, causing multiorgan pathology.
  • Cerebrovascular, cardiovascular, and renal complications are common in Fabry disease.

Purpose of the Study:

  • To review evidence of vascular abnormalities in Fabry disease.
  • To discuss potential mechanisms of cellular storage leading to end-organ pathology.
  • To consider the impact of enzyme replacement therapy (ERT) on vascular aspects.

Main Methods:

  • Review of existing literature on Fabry disease vascular pathology.
  • Discussion of cellular storage mechanisms and their link to organ damage.
  • Analysis of preliminary data on enzyme replacement therapy's vascular effects.

Main Results:

  • Evidence suggests abnormal blood flow, vessel architecture, and endothelial function in Fabry disease.
  • The precise mechanisms linking cellular storage to end-organ vascular pathology remain unclear.
  • Preliminary findings indicate potential benefits of ERT in addressing vascular components.

Conclusions:

  • Fabry disease pathology significantly involves vascular dysfunction, though mechanisms are not fully understood.
  • Enzyme replacement therapy (ERT) may offer therapeutic benefits for the vascular aspects of this multisystemic disease.
Abstract

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